Gene: DYNC2H1 ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137853027
rs137853027
DYNC2H1
15 0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04 0.700 1.000 4 2009 2018
dbSNP: rs397514637
rs397514637
DYNC2H1
2 0.925 0.120 11 103117852 missense variant C/T snv 3.2E-05 1.4E-05 0.700 1.000 3 2012 2018
dbSNP: rs1555096711
rs1555096711
DYNC2H1
1 1.000 0.120 11 103307833 splice donor variant T/A snv 0.700 1.000 1 2013 2013
dbSNP: rs1565371538
rs1565371538
DYNC2H1
1 1.000 0.120 11 103179234 splice donor variant G/A snv 0.700 1.000 1 2013 2013
dbSNP: rs181011657
rs181011657
DYNC2H1
3 0.882 0.120 11 103257719 stop gained C/T snv 6.8E-05 1.4E-04 0.700 1.000 1 2017 2017
dbSNP: rs1178331074
rs1178331074
DYNC2H1
2 0.925 0.120 11 103129005 splice region variant G/A snv 4.2E-06 0.700 0
dbSNP: rs1196317554
rs1196317554
DYNC2H1
1 1.000 0.120 11 103199400 missense variant T/C snv 8.1E-06 5.6E-05 0.700 0
dbSNP: rs1218198013
rs1218198013
DYNC2H1
1 1.000 0.120 11 103236479 frameshift variant AAAAG/- delins 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1223907858
rs1223907858
DYNC2H1
1 1.000 0.120 11 103121029 frameshift variant TTAA/- delins 2.8E-05 0.700 0
dbSNP: rs1260978141
rs1260978141
DYNC2H1
8 1.000 0.120 11 103125293 stop gained C/T snv 4.5E-06 0.700 0
dbSNP: rs1309577378
rs1309577378
DYNC2H1
1 1.000 0.120 11 103135524 stop gained G/A snv 1.4E-05 0.700 0
dbSNP: rs1350329646
rs1350329646
DYNC2H1
2 0.925 0.120 11 103192150 missense variant C/A;T snv 5.1E-06; 5.1E-06 0.700 0
dbSNP: rs137853031
rs137853031
DYNC2H1
2 0.925 0.120 11 103185032 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs1380132788
rs1380132788
DYNC2H1
1 1.000 0.120 11 103177605 frameshift variant T/- delins 7.0E-06 0.700 0
dbSNP: rs1555038664
rs1555038664
DYNC2H1
1 1.000 0.120 11 103120693 frameshift variant TGGAAAGCTG/- delins 0.700 0
dbSNP: rs1555042801
rs1555042801
DYNC2H1
1 1.000 0.120 11 103133640 frameshift variant -/T delins 0.700 0
dbSNP: rs1555043520
rs1555043520
DYNC2H1
2 0.925 0.120 11 103135630 missense variant T/G snv 0.700 0
dbSNP: rs1555049536
rs1555049536
DYNC2H1
1 1.000 0.120 11 103152284 frameshift variant A/- del 0.700 0
dbSNP: rs1555051720
rs1555051720
DYNC2H1
2 0.925 0.120 11 103158709 inframe insertion -/GTCACAACA delins 0.700 0
dbSNP: rs1555052497
rs1555052497
DYNC2H1
1 1.000 0.120 11 103160931 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1555052511
rs1555052511
DYNC2H1
1 1.000 0.120 11 103160971 missense variant T/C snv 0.700 0
dbSNP: rs1555053115
rs1555053115
DYNC2H1
1 1.000 0.120 11 103163089 missense variant G/A snv 0.700 0
dbSNP: rs1555056464
rs1555056464
DYNC2H1
1 1.000 0.120 11 103174108 frameshift variant C/- del 0.700 0
dbSNP: rs1555057838
rs1555057838
DYNC2H1
1 1.000 0.120 11 103179047 missense variant G/C snv 0.700 0
dbSNP: rs1555068270
rs1555068270
DYNC2H1
1 1.000 0.120 11 103203777 splice donor variant G/A snv 0.700 0